CA8

Also known as CA-VIII, CALS, CAMRQ3, CARP, CA-RP, carbonic anhydrase 8

Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene. The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3) is caused by mutations in the CA8 gene.

Gene data

CA8

Name: carbonic anhydrase 8 (inactive)
Type: protein-coding
Position: 60,185,412–60,281,573 (−)
Aliases: CA-RP, CA-VIII, CALS, CAMRQ3, CARP, SCAR34
Ensembl: ENSG00000178538
RefSeq RNA: NM_001321837.2, NM_001321838.2, NM_001321839.2, NM_001412131.1, NM_001416962.1
RefSeq protein: NP_001308766.1, NP_001308767.1, NP_001308768.1, NP_001399060.1, NP_001403891.1

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].